title: Limb reduction defects in fetuses with homozygous alpha-thalassaemia-1.
abstract: Limb reduction defect is a rare event. Its exact pathogenesis is unknown. We retrospectively reviewed the outcome of 130 fetuses affected by homozygous alpha-thalassaemia-1 and found that 11 of them (8 per cent; 95 per cent confidence interval: 4-13 per cent) had terminal transverse limb reduction defects. Chromosome study was available in ten fetuses with limb defects and the results were normal. We postulate that the strong association between homozygous alpha-thalassaemia-1 and limb reduction is related to the hypoxic insult in early gestation. This may be the final common pathway in the pathogenesis of other forms of limb reduction defects.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Hong Kong, China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Lam
authors.forename: M H
authors.initials: MH
authors.lastname: Tang
authors.forename: S Y
authors.initials: SY
authors.lastname: Sin
authors.forename: A
authors.initials: A
authors.lastname: Ghosh
authors.forename: C P
authors.initials: CP
authors.lastname: Lee
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000196:embryology*; D005865:Gestational Age; D006720:Homozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000196:embryology* / Q000209:etiology / Q000473:pathology; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D017085:alpha-Thalassemia / Q000150:complications / Q000196:embryology*